HAUS1 HAUS augmin like complex subunit 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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38 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | CCDC5 |
SYNONYM | HEI-C |
SYNONYM | HEIC |
SYNONYM | HsT1461 |
MIM | 608775 OMIM |
HGNC | HGNC:25174 HGNC |
Ensembl | ENSG00000152240 Ensembl |
AllianceGenome | HGNC:25174 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000282058.11 | hg38 | chr18 | 46,104,385 | 46,128,333 | 23,949 |
ENST00000585518.5 | hg38 | chr18 | 46,104,402 | 46,128,179 | 23,778 |
ENST00000282058.11 | hg19 | chr18 | 43,684,351 | 43,708,299 | 23,949 |
ENST00000585518.5 | hg19 | chr18 | 43,684,368 | 43,708,145 | 23,778 |
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